Canonical Allele Identifier: CA3535441
Gene: ADAM19 HGNC NCBI
COSMIC:
COSM4407371 (not active)
COSM4407372 (not active)
COSM4407373 (not active)
COSM4407374 (not active)
MyVariant.info:
GRCh38 chr5:g.157509356T>C
GRCh37 chr5:g.156936364T>C
Revel Score:
ENST00000430702 0.104
ENST00000257527 (MANE Select) 0.104
ENST00000394020 0.104
ENST00000517905 0.104
gnomAD v2:
5:156936364 T / C
gnomAD v3:
5:157509356 T / C
gnomAD v4:
chr5-157509356-T-C
Joint Max Group AF 0.59358196 (AFR)
Genomes Max Group AF 0.58482938 (AFR)
Exomes Max Group AF 0.60016278 (AFR)
dbSNP:
1422795
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157509356T>C , CM000667.2:g.157509356T>C GRCh38
NC_000005.9:g.156936364T>C , CM000667.1:g.156936364T>C GRCh37
NC_000005.8:g.156868942T>C NCBI36
NG_046960.1:g.71468A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000257527.9:c.850A>G MANE Select ENSP00000257527.5:p.Ser284Gly
ENST00000257527.8:c.850A>G ENSP00000257527.4:p.Ser284Gly
ENST00000517905.1:c.850A>G ENSP00000428654.1:p.Ser284Gly
ENST00000517951.5:c.*41A>G ENSP00000428376.1:n.*41A>G
NM_033274.4:c.850A>G NP_150377.1:p.Ser284Gly
XM_005266003.2:c.850A>G XP_005266060.1:p.Ser284Gly
XM_011534680.1:c.49A>G XP_011532982.1:p.Ser17Gly
XM_011534681.1:c.49A>G XP_011532983.1:p.Ser17Gly
XM_011534682.1:c.49A>G XP_011532984.1:p.Ser17Gly
XM_011534682.2:c.49A>G XP_011532984.1:p.Ser17Gly
XM_017010009.1:c.49A>G XP_016865498.1:p.Ser17Gly
NM_033274.5:c.850A>G MANE Select NP_150377.1:p.Ser284Gly
Search 100 bp 5'
Search 100 bp 3'